Varaico: Literature-Extracted Genetic Variants

PALB2

2,283 papers

RefSeq Summary

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the st...

Pfam Domains

PALB2_WD40aa 542–889UCSCPartner and localizer of BRCA2 WD40 domain

PALB2_WD40aa 1039–1105UCSCPartner and localizer of BRCA2 WD40 domain

Gene Aliases

HGNC Name

partner and localizer of BRCA2

HGNC Alias Symbols

FLJ21816; FANCN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024675.4

p.V1162E

c.3485T>A

Surrounding Variants

1 paper

NM_024675.4

p.V1162V

c.3486G>A

6 papers

NM_024675.4

p.F1161delFs

c.3483delA

1 paper

NM_024675.4

p.F1161fs

c.3481_3482fs

1 paper

NM_024675.4

p.F1161F

c.3483T>C

1 paper

NM_024675.4

p.Q1157_F1161delFs

c.3469_3482del14

1 paper

NM_024675.4

p.K1163I

c.3488A>T

2 papers

NM_024675.4

p.F1161fs

c.3481_3482fs

1 paper

NM_024675.4

p.W1159_S1160delFs

c.3477_3480del4

1 paper

NM_024675.4

p.W1164R

c.3490T>C

1 paper

NM_024675.4

p.W1164R

c.3490T>A

5 papers

NM_024675.4

p.W1164*

c.3491G>A

2 papers

NM_024675.4

p.S1160F

c.3479C>T